Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.450 Biomarker disease GENOMICS_ENGLAND Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1. 29702748 2019
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.450 GeneticVariation disease BEFREE Here, we describe two patients with heterozygous STAT1 GOF mutations mimicking CID who were treated with HSCT. 30543054 2019
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.450 GeneticVariation disease BEFREE We report a case of CMC/CID in a 10-year-old boy due to a novel mutation in the small ubiquitin molecule (SUMO) consensus site at the C-terminal region of STAT1 leading to gain-of-function by impaired sumoylation. 31512162 2019
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.450 GeneticVariation disease BEFREE Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. 28601685 2018
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.450 GeneticVariation disease BEFREE We here describe two patients with STAT1 GOF mutations presenting early in life with combined immunodeficiency (CID). 27379765 2016
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.450 GeneticVariation disease BEFREE Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. 24239102 2014
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.450 CausalMutation disease CLINVAR